Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of congenital atonic-sclerotic muscular dystrophy is described, with a combination of proximal joint rigidity and distal hypotonia and hyperextensibility, besides torticollis and kyphoscoliosis. These severe congenital defects usually prevent walking and are followed by chronic respiratory insufficiency, with a fatal outcome in the long term. An autosomal recessive type of heredity is implied. There is not sensory or intellectual impairment, therefore it can be distinguished from other congenital muscular dystrophies, that usually have CNS abnormalities associated.
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PMID:[Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)]. 176 46

A family with autosomal dominant congenital muscular dystrophy affecting members of both sexes in three generations is described; a father and his two sons were studied. The onset of symptoms was in early childhood and progression, if any, was slow. The proximal limb muscles, the sternocleidomastoid and anterior tibial muscles were affected. One patient had torticollis and all had heel-cord shortening. An electrophysiological examination showed myopathy. There was no cardiomyopathy. Creatine kinase (CK) was elevated, and a histological study revealed a necrotizing myopathy with pronounced regeneration and formation of aberrant myofibrils (ringbinden) and fibrosis.
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PMID:Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification. 358 21

Four patients with typical signs of congenital muscular dystrophy (C.M.D.), as described in the literature, are reported. In two young sisters born from consanguineous parents the presenting signs were severe congenital hypotonia in one and hypotonia with arthrogryposis in the other. The two other cases were adult patients with a long standing disease, the onset haring been marked by a transient neonatal hypotonia in one and by a congenital torticollis in the other. All 4 patients had progressively increasing muscle retractions, with absent reflexes in three. C.P.K. was moderately increased in all patients. Electromyography demonstrated myopathic abnormalities in 3 cases, associated in 2 cases with misleading pseudo-neurogenic signs. MUscle biopsy showed non specific changes compatible with muscular dystrophy: fibrosis and/or fat involution was marked in all cases, while necrosis of fibers was rarely observed. Histoenzymology and morphometry confirmed the absence of lesion specificity and their results were variable from case to case. A review of 92 published cases demonstrated that the course of the disease is very variable. A fatal outcome occurs in 15% of cases, while the affection becomes worse or remains stable with about the same frequency. A progressive worsening of muscle retractions is a characteristic finding in C.M.D. Genetically, most cases are of recessive autosomic. The current nosology of C.M.D. is probably inadequate, the clinical picture including cases that are likely to be due to different mechanisms that 2 present methods of investigation cannot demonstrate.
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PMID:[Congenital muscular dystrophy]. 725 65

We report three patients with sporadic merosin-positive congenital muscular dystrophy (CMD) with torticollis and/or developmental dislocation of the hip in early childhood. Diagnosis of merosin-positive CMD was based on their clinical and dystrophic muscle biopsy findings. At the age 13 months, patient 1 was found to have developmental dislocation of both hips, which was surgically treated at 5 years. Patient 2 had severe torticollis and contracture of both hip joints which had been present since the neonatal period, and underwent repair of the torticollis at 2 years. Patient 3 was found to have developmental dislocation of the left hip at one month of age. Although she had generalized muscle hypotonia she learned to walk at 23 months. She had no facial muscle involvement nor contracture of joints, but had hyperlaxity of distal joints. Her muscle biopsy showed complete collagen VI deficiency immunohistochemically. In contrast to merosin-deficient CMD, merosin-positive CMD appears to be a group of heterogeneous diseases. Since collagen VI was reported to be defective in Ullrich's disease, patient 3 may be diagnosed as having Ullrich's disease but had no typical clinical characteristics of the disease. Further study is needed to identify the pathogenetic mechanism of congenital muscular dystrophy with early joint abnormalities to determine whether there is a primary abnormality of the connective tissue including collagen VI.
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PMID:[Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease]. 1266 Nov 1

A purpose of the study was to develop the Stress Tolerance Scale (STS) and to assess its diagnostic efficacy in neurological clinical practice. The theoretical ground for stress tolerance measurement is the concept of personal environmental interaction as a process including phases of the subjective stress event appraisal, active reaction and subjective result appraisal. The STS encompasses the response items of the descriptions of the accomplished and unaccomplished person-environment and self-personal relations that result in stress overcoming or in stress maintenance, respectively. Within each group, the additional variants of the transactions were specified according to their space-temporal characteristics. Data sets from 112 healthy people and 247 patients (60 with chronic tension headache, 72 with chronic low back pain, 51 with myasthenia gravis, 14 with progressive muscular dystrophy, 27 with hereditary polyneuropathy and 23 with torticollis) have been analyzed. The validity and quiantitation of the STS were determined by Rasch analysis and comparison of the results with those of total STS score and subscale scores of the Hospital Anxiety and Depression Scale and Russian brief version of MMPI. All correlations were at a level of significance. A decrease of stress tolerance was found in patients with chronic pain syndromes and torticollis. The results indicate that the STS allows assessing stress tolerance and a structure of person-environment interactions used by a patient. It can be utilized for optimization of short-term psychotherapy of neurological patients.
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PMID:[Evaluation of stress tolerance in the neurological patients]. 1595 38